Factor H gene linked to AMD development, researchers find

FORT LAUDERDALE, Fla. — A variation of the gene called factor H may trigger the onset of age-related macular degeneration, according to speakers here at the Association for Research and Vision in Ophthalmology meeting.

A study appearing this week in the Proceedings of the National Academy of Sciences, led by Rando Allikmets, PhD, of Columbia University Medical Center, found that a gene variant of the polymorphism complement factor H (CFH) — an immune protein that regulates infection in the retinal pigment epithelium — may inhibit the suppression of inflammation. Patients with this gene variant are more likely to develop AMD later in life, according to a press release.

“This is an exciting new development,” C. Thomas Caskey, MD, said in a presentation at ARVO. “The discovery of factor H provides a very significant lead to AMD research, because it confirms what many researchers have thought all along — AMD may be an inflammatory disease.”

“We now understand the genetic variation that is behind AMD and are beginning to target the trigger that sets the process in motion,” Dr. Allikmets said in the press release. “By targeting the molecules involved in inflammation and its regulation we believe we can begin to develop therapies and diagnostic tools that could help countless people keep their sight.”

Dean Bok, PhD, acknowledged the importance of the findings of Dr. Allikmets and colleagues during his presentation. Dr. Bok described the molecular structure of CFH: “CFH is a plasma protein that regulates compliment activation in the amino acid sequence. When a non-silent variant CFH is present, changes are produced in the sequence.”

Dr. Caskey explained further: “[This sequence change] could mean a decrease in function relating to structure, specifically inflammatory response.” He said that this genetic finding appears to “open a plethora of therapeutic options” for AMD patients, but he cautioned that CFH research still has many hurdles to overcome.

“More research is needed to confirm the mechanism behind factor H and the implications for AMD treatment and prevention,” Dr. Caskey added.